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Case Reports
. 2008 May 15;146A(10):1296-8.
doi: 10.1002/ajmg.a.32250.

Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome

William Reardon  1 , I Karen Temple
Affiliations
Case Reports

Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome

William Reardon et al. Am J Med Genet A. .

Abstract

Reports of SHORT syndrome have, to date, focused on the clinical features which lie at the core of the diagnosis but there has been little by way of report of long-term outcome, either in terms of medical complications or of intellectual development. We now report two children in whom nephrocalcinosis has developed and a third, adult, with similar findings. It may be that clinicians should be looking among cases of unexplained hypercalcaemia for an alternative phenotypic presentation of this short stature syndrome.

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